I82V (p.Ile82Val) variant of SOS2 (Son of sevenless homolog 2)
I82V (p.Ile82Val) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 9; SOS2-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- rs545263131
- ClinGen CA7177573
- ClinVar RCV001984338
- ClinVar RCV002443015
- Uncertain significance
- Noonan syndrome 9; SOS2-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.64
- MetaLR 0.65
- MetaSVM 0.45
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.02
- ClinVar: Uncertain significance (Noonan syndrome 9; SOS2-related disorder; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)